Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Tfr2'

194279

Institutional Source

Beutler Lab

Gene Symbol

Tfr2

Ensembl Gene

ENSMUSG00000029716

Gene Name

transferrin receptor 2

Synonyms

Trfr2, Tfr2

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1765 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

137568102-137585743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137581707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 598 (T598I)

Ref Sequence

ENSEMBL: ENSMUSP00000142478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031729] [ENSMUST00000196471] [ENSMUST00000198783] [ENSMUST00000198866] [ENSMUST00000199054]

AlphaFold

Q9JKX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031729
AA Change: T598I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
AA Change: T598I

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PA	235	326	2.2e-12	PFAM
Pfam:Peptidase_M28	407	618	2.9e-16	PFAM
Pfam:TFR_dimer	664	788	5.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196450

Predicted Effect

probably damaging
Transcript: ENSMUST00000196471
AA Change: T598I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
AA Change: T598I

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PA	231	328	1.3e-12	PFAM
Pfam:Peptidase_M28	418	606	7.5e-15	PFAM
low complexity region	612	625	N/A	INTRINSIC
Pfam:TFR_dimer	663	790	1.8e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198783
AA Change: T598I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142502
Gene: ENSMUSG00000029716
AA Change: T598I

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PA	231	328	1.3e-12	PFAM
Pfam:Peptidase_M28	418	606	7.5e-15	PFAM
low complexity region	612	625	N/A	INTRINSIC
Pfam:TFR_dimer	663	790	1.8e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198866
AA Change: T598I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
AA Change: T598I

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PA	231	328	1.3e-12	PFAM
Pfam:Peptidase_M28	418	606	7.5e-15	PFAM
low complexity region	612	625	N/A	INTRINSIC
Pfam:TFR_dimer	663	790	1.8e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199054
AA Change: T598I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
AA Change: T598I

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PA	231	328	1.3e-12	PFAM
Pfam:Peptidase_M28	418	606	7.5e-15	PFAM
low complexity region	612	625	N/A	INTRINSIC
Pfam:TFR_dimer	663	790	1.8e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199069

Meta Mutation Damage Score

0.7634

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutant mice exhibit iron homeostasis defects similar to those observed in human hemachromatosis. On a standard diet, mutant mice show periportal hepatic iron loading, splenic iron sparing, and elevated serum transferrin saturations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Tfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Tfr2	APN	5	137,572,717 (GRCm39)	missense	probably null
IGL00960:Tfr2	APN	5	137,569,954 (GRCm39)	missense	probably benign	0.00
IGL01360:Tfr2	APN	5	137,569,953 (GRCm39)	missense	probably benign
IGL02967:Tfr2	APN	5	137,581,081 (GRCm39)	nonsense	probably null
IGL02996:Tfr2	APN	5	137,581,728 (GRCm39)	missense	probably benign
IGL03278:Tfr2	APN	5	137,569,298 (GRCm39)	nonsense	probably null
iron-man	UTSW	5	137,581,414 (GRCm39)	splice site	probably benign
R0114:Tfr2	UTSW	5	137,575,727 (GRCm39)	missense	probably benign	0.00
R1384:Tfr2	UTSW	5	137,585,082 (GRCm39)	splice site	probably benign
R1525:Tfr2	UTSW	5	137,577,292 (GRCm39)	missense	probably benign	0.00
R1545:Tfr2	UTSW	5	137,581,561 (GRCm39)	missense	probably benign	0.03
R1908:Tfr2	UTSW	5	137,569,954 (GRCm39)	missense	probably benign	0.00
R1943:Tfr2	UTSW	5	137,577,183 (GRCm39)	missense	probably benign
R3439:Tfr2	UTSW	5	137,572,913 (GRCm39)	missense	probably benign	0.03
R4332:Tfr2	UTSW	5	137,569,996 (GRCm39)	missense	probably damaging	1.00
R4626:Tfr2	UTSW	5	137,569,954 (GRCm39)	missense	probably benign	0.00
R4915:Tfr2	UTSW	5	137,581,673 (GRCm39)	missense	probably damaging	0.96
R4999:Tfr2	UTSW	5	137,585,187 (GRCm39)	missense	probably benign	0.00
R5150:Tfr2	UTSW	5	137,572,752 (GRCm39)	missense	probably benign	0.22
R5200:Tfr2	UTSW	5	137,569,242 (GRCm39)	splice site	probably benign
R5936:Tfr2	UTSW	5	137,585,268 (GRCm39)	missense	probably benign	0.00
R6165:Tfr2	UTSW	5	137,578,519 (GRCm39)	missense	probably damaging	0.97
R6513:Tfr2	UTSW	5	137,572,793 (GRCm39)	splice site	probably null
R7076:Tfr2	UTSW	5	137,581,836 (GRCm39)	missense	probably damaging	1.00
R7115:Tfr2	UTSW	5	137,569,977 (GRCm39)	missense	probably benign
R7524:Tfr2	UTSW	5	137,581,751 (GRCm39)	missense	probably benign	0.12
R7524:Tfr2	UTSW	5	137,569,751 (GRCm39)	nonsense	probably null
R7799:Tfr2	UTSW	5	137,569,986 (GRCm39)	missense	possibly damaging	0.69
R8225:Tfr2	UTSW	5	137,569,725 (GRCm39)	missense	possibly damaging	0.95
R9040:Tfr2	UTSW	5	137,572,967 (GRCm39)	missense	probably benign	0.00
R9495:Tfr2	UTSW	5	137,572,701 (GRCm39)	missense	probably benign	0.01
R9513:Tfr2	UTSW	5	137,575,769 (GRCm39)	missense	possibly damaging	0.72
R9515:Tfr2	UTSW	5	137,575,769 (GRCm39)	missense	possibly damaging	0.72
X0067:Tfr2	UTSW	5	137,575,810 (GRCm39)	missense	probably benign	0.01
Z1176:Tfr2	UTSW	5	137,569,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTATGAACAAGTGGCACTCACCC -3'
(R):5'- AGGTCCCCAGAGAACTCATTGAGG -3'

Sequencing Primer
(F):5'- TGGACAGCAGTGCATATTCC -3'
(R):5'- CAGAGAACTCATTGAGGTTGCC -3'

Posted On

2014-05-23